NM_004006.3(DMD):c.10262+1G>A AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Benign(2);Uncertain significance(1) (Last evaluated: May 5, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000723512.5

Allele description [Variation Report for NM_004006.3(DMD):c.10262+1G>A]

NM_004006.3(DMD):c.10262+1G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.2
Genomic location:
Preferred name:
NM_004006.3(DMD):c.10262+1G>A
HGVS:
  • NC_000023.11:g.31177931C>T
  • NG_012232.1:g.2166679G>A
  • NM_000109.4:c.10238+1G>A
  • NM_004006.2:c.10262+1G>A
  • NM_004006.3:c.10262+1G>AMANE SELECT
  • NM_004009.3:c.10250+1G>A
  • NM_004010.3:c.9893+1G>A
  • NM_004011.4:c.6239+1G>A
  • NM_004012.4:c.6230+1G>A
  • NM_004013.3:c.2882+1G>A
  • NM_004014.3:c.2075+1G>A
  • NM_004015.3:c.1058+1G>A
  • NM_004016.3:c.1058+1G>A
  • NM_004017.3:c.1019+738G>A
  • NM_004018.3:c.1019+738G>A
  • NM_004020.4:c.2843+738G>A
  • NM_004021.3:c.2882+1G>A
  • NM_004022.3:c.2843+738G>A
  • NM_004023.3:c.2843+738G>A
  • LRG_199t1:c.10262+1G>A
  • LRG_199:g.2166679G>A
  • NC_000023.10:g.31196048C>T
Links:
dbSNP: rs145603325
NCBI 1000 Genomes Browser:
rs145603325
Molecular consequence:
  • NM_004017.3:c.1019+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004018.3:c.1019+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004020.4:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004022.3:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004023.3:c.2843+738G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000109.4:c.10238+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.2:c.10262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004006.3:c.10262+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004009.3:c.10250+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004010.3:c.9893+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004011.4:c.6239+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004012.4:c.6230+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004013.3:c.2882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004014.3:c.2075+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004015.3:c.1058+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004016.3:c.1058+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_004021.3:c.2882+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
5

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000112320EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Uncertain significance
(Jan 15, 2018)
germlineclinical testing

Citation Link,

SCV000564939GeneDxcriteria provided, single submitter
Benign
(May 5, 2021)
germlineclinical testing

Citation Link,

SCV001143740Athena Diagnostics Inccriteria provided, single submitter
Benign
(Jun 27, 2019)
germlineclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown5not providednot providednot providednot providedclinical testing

Citations

PubMed

NGS-Based Assay for the Identification of Individuals Carrying Recessive Genetic Mutations in Reproductive Medicine.

Abulí A, Boada M, Rodríguez-Santiago B, Coroleu B, Veiga A, Armengol L, Barri PN, Pérez-Jurado LA, Estivill X.

Hum Mutat. 2016 Jun;37(6):516-23. doi: 10.1002/humu.22989. Epub 2016 Apr 15.

PubMed [citation]
PMID:
26990548

Sudden unexpected death in the young - Value of massive parallel sequencing in postmortem genetic analyses.

Scheiper S, Ramos-Luis E, Blanco-Verea A, Niess C, Beckmann BM, Schmidt U, Kettner M, Geisen C, Verhoff MA, Brion M, Kauferstein S.

Forensic Sci Int. 2018 Dec;293:70-76. doi: 10.1016/j.forsciint.2018.09.034. Epub 2018 Oct 26.

PubMed [citation]
PMID:
30415094
See all PubMed Citations (6)

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000112320.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided5not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided5not providednot providednot provided

From GeneDx, SCV000564939.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is associated with the following publications: (PMID: 30415094, 23871722, 23352160, 26743743, 26990548, 32013268, 30275481)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Athena Diagnostics Inc, SCV001143740.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 30, 2021

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